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AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167175/ https://www.ncbi.nlm.nih.gov/pubmed/30283821 http://dx.doi.org/10.1212/NXG.0000000000000273 |
| _version_ | 1783360153922306048 |
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| author | Carmona, Susana Marecos, Clara Amorim, Marta Ferreira, Ana C. Conceição, Carla Brás, José Duarte, Sofia T. Guerreiro, Rita |
| author_facet | Carmona, Susana Marecos, Clara Amorim, Marta Ferreira, Ana C. Conceição, Carla Brás, José Duarte, Sofia T. Guerreiro, Rita |
| author_sort | Carmona, Susana |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-6167175 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2018 |
| publisher | Wolters Kluwer |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-61671752018-10-03 AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria Carmona, Susana Marecos, Clara Amorim, Marta Ferreira, Ana C. Conceição, Carla Brás, José Duarte, Sofia T. Guerreiro, Rita Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2018-09-19 /pmc/articles/PMC6167175/ /pubmed/30283821 http://dx.doi.org/10.1212/NXG.0000000000000273 Text en Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| spellingShingle | Clinical/Scientific Notes Carmona, Susana Marecos, Clara Amorim, Marta Ferreira, Ana C. Conceição, Carla Brás, José Duarte, Sofia T. Guerreiro, Rita AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria |
| title | AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria |
| title_full | AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria |
| title_fullStr | AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria |
| title_full_unstemmed | AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria |
| title_short | AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria |
| title_sort | ap4s1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria |
| topic | Clinical/Scientific Notes |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167175/ https://www.ncbi.nlm.nih.gov/pubmed/30283821 http://dx.doi.org/10.1212/NXG.0000000000000273 |
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